Linked Data
ClinVar Variation Id:
52632
dbSNP Id:
rs80359119
gnomAD v2:
13-32945204-A-C
gnomAD v3:
13-32371067-A-C
gnomAD v4:
13-32371067-A-C
PubMed:
PMID:19043619
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32371067A>C , CM000675.2:g.32371067A>C | GRCh38 |
| NC_000013.10:g.32945204A>C , CM000675.1:g.32945204A>C | GRCh37 |
| NC_000013.9:g.31843204A>C | NCBI36 |
| NG_012772.3:g.60588A>C , LRG_293:g.60588A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.8599A>C | ENSP00000434898.2:p.Thr2867Pro | |
| ENST00000528762.2:c.8599A>C | ENSP00000433168.2:p.Thr2867Pro | |
| ENST00000530893.7:c.8230A>C | ENSP00000499438.2:p.Thr2744Pro | |
| ENST00000665585.2:c.8599A>C | ENSP00000499570.2:p.Thr2867Pro | |
| ENST00000666593.2:c.8599A>C | ENSP00000499256.2:p.Thr2867Pro | |
| ENST00000700202.2:c.8599A>C | ENSP00000514856.2:p.Thr2867Pro | |
| ENST00000700202.1:c.1066A>C | ENSP00000514856.1:p.Thr356Pro | |
| ENST00000380152.8:c.8599A>C MANE Select | ENSP00000369497.3:p.Thr2867Pro | |
| ENST00000544455.6:c.8599A>C | ENSP00000439902.1:p.Thr2867Pro | |
| ENST00000614259.2:c.8607A>C | ENSP00000506251.1:n.8607A>C | |
| ENST00000665585.1:c.1164A>C | ||
| ENST00000680887.1:c.8599A>C | ENSP00000505508.1:p.Thr2867Pro | |
| ENST00000380152.7:c.8599A>C | ENSP00000369497.3:p.Thr2867Pro | |
| ENST00000528762.1:c.97A>C | ENSP00000433168.1:p.Thr33Pro | |
| ENST00000544455.5:c.8599A>C | ENSP00000439902.1:p.Thr2867Pro | |
| NM_000059.3:c.8599A>C , LRG_293t1:c.8599A>C | NP_000050.2:p.Thr2867Pro | |
| XM_011535203.1:c.8599A>C | XP_011533505.1:p.Thr2867Pro | |
| XM_011535204.1:c.8503A>C | XP_011533506.1:p.Thr2835Pro | |
| XM_011535205.1:c.8599A>C | XP_011533507.1:p.Thr2867Pro | |
| NM_000059.4:c.8599A>C MANE Select | NP_000050.3:p.Thr2867Pro |